Details of Disease

General Information of Disease (ID: DISNMBYU)

Disease Name Primary adrenal insufficiency
Definition
A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary.
Disease Hierarchy
DISFS818: Adrenal gland disorder
DISNMBYU: Primary adrenal insufficiency
Disease Identifiers
MONDO ID
MONDO_0015128
UMLS CUI
C3887896
MedGen ID
854614
HPO ID
HP:0008207
Orphanet ID
101958

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CYP11A1 TTSYVO6 Limited Genetic Variation [1]
NNT TTKIH76 moderate Genetic Variation [2]
NR0B1 TTTK36V Strong Genetic Variation [1]
STAR TTEI40H Strong Genetic Variation [1]
------------------------------------------------------------------------------------
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLEC16A OTLGV5SV moderate Genetic Variation [3]
FGD1 OTV3T64P moderate Genetic Variation [4]
NUDT10 OT61XMYC moderate Genetic Variation [5]
SAMD9 OTDG48P0 moderate Genetic Variation [1]
NR5A1 OTOULYR4 Strong Genetic Variation [1]
------------------------------------------------------------------------------------

References

1 Primary adrenal insufficiency: New genetic causes and their long-term consequences.Clin Endocrinol (Oxf). 2020 Jan;92(1):11-20. doi: 10.1111/cen.14109. Epub 2019 Oct 30.
2 NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.Eur J Endocrinol. 2016 Jul;175(1):73-84. doi: 10.1530/EJE-16-0056. Epub 2016 Apr 29.
3 More CLEC16A gene variants associated with multiple sclerosis.Acta Neurol Scand. 2011 Jun;123(6):400-6. doi: 10.1111/j.1600-0404.2010.01421.x. Epub 2010 Sep 16.
4 Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.Clin Endocrinol (Oxf). 2007 Feb;66(2):205-10. doi: 10.1111/j.1365-2265.2006.02709.x.
5 A rare case of autoimmune polyglandular syndrome with Sjgren's syndrome and primary hypoparathyroidism.BMJ Case Rep. 2019 May 27;12(5):e228634. doi: 10.1136/bcr-2018-228634.